Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.P246L
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ABCA3

NM_001089.3:p.P246L

Associated Papers

Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort.

Fleury M et al.

Pediatric Pulmonology, 2025

ABCA3 Surfactant-Related Gene Variant Associated Interstitial Lung Disease in Adults: A Case Series and Review of the Literature.

Nolan J et al.

Respirology Case Reports, 2025

Case of familial interstitial lung disease attributed to ATP-binding cassette transporter 3 gene mutation in identical twins.

Tsuchiya K et al.

Sarcoidosis, Vasculitis, and Diffuse Lung Diseases : Official Journal of Wasog, 2024

ABCA3-related interstitial lung disease beyond infancy.

Li Y et al.

Thorax, 2023

ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine.

Yang X et al.

International Journal of Molecular Sciences, 2023

Novel insights into congenital surfactant dysfunction disorders by in silico analysis of ABCA3 proteins.

Xiao GL et al.

World Journal of Pediatrics : Wjp, 2023

A Newly Observed Mutation of the ABCA3 Gene Causing Lethal Respiratory Failure of a Full-Term Newborn: A Case Report.

Jouza M et al.

Frontiers in Genetics, 2020

Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.

Wambach JA et al.

Pediatrics, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."